线粒体遗传与线位体疾病.pptxVIP

线粒体遗传与线位体疾病;;;三亲婴儿;三亲婴儿;目录;氧化磷酸化-OXPHOS;线粒体与线粒体DNA;线粒体DNA-37genes/16,569 bp;;mtDNA与nDNA不同;mtDNA遗传的瓶颈效应;线粒体mtDNA遗传的瓶颈效应与阈值效应;线粒体mtDNA的复制分离;线粒体mtDNA的异质性;mtDNA变异类型;mtDNA突变引起的疾病;nDNA突变引起的疾病;线粒体疾病的诊断;mtDNA疾病的遗传特点-母系遗传（maternal inheritance）;经典线粒体疾病及遗传咨询; ;无征兆的视觉功能丧失;Leber遗传性视神经病特征-OMIM;;伴有破碎红纤维的肌阵挛癫痫（MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF）（OMIM # 545000）;破碎红纤维;MTTK*MERRF A8344G;线粒体脑肌病合并乳酸血症及卒中样发作，MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES，MELAS综合征（OMIM # 540000）;;神经病伴运动性共济失调和视网膜色素变性（NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA，NARP SYNDROME:OMIM # 551500） 以发育迟缓，近端肢体肌无力，痴呆，抽搐，视网膜色素变性和感觉功能减退为特点。;KEARNS-SAYRE SYNDROME,KSS（OMIM # 530000）、慢性进行性眼外肌瘫痪（CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY,CPEO);Caused by mutation in the mitochondrial tRNA (leucine)-1 gene (MTTL1,)Caused by deletion of multiple genes in the mitochondrial DNA;;氨基糖甙类毒性（OMIM # 580000）; ; ;mtDNA 突变类型;感谢观看!